Hans Rudolf Lytchoff Eiberg
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
- 2002
- Published
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract
Bu, L., Jin, Y., Shi, Y., Chu, R., Ban, A., Eiberg, Hans Rudolf Lytchoff, Andres, L., Jiang, H., Zheng, G., Qian, M., Cui, B., Xia, Y., Liu, J., Hu, L., Zhao, G., Hayden, M. R. & Kong, X., 2002, In: Nature Genetics. vol. 31, p. 276-278Research output: Contribution to journal › Journal article › Research › peer-review
- 2001
- Published
A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect
Thiselton, D. L., Alexander, C., Morris, A., Brooks, S., Rosenberg, T., Eiberg, Hans Rudolf Lytchoff, Kjer, B., Bhattacharya, S. S. & Votruba, M., 2001, In: Hum. Genet.. vol. 109, p. 498-502Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree
Kitsos, G., Eiberg, Hans Rudolf Lytchoff, Economou-Petersen, E., Wirtz, M. K., Kramer, P. L., Aspiotis, M., Tommerup, Niels, Petersen, M. B. & Psilas, K., 2001, In: European Journal of Human Genetics. 9, 6, p. 452-457Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Linkage study of a large Danish 4-generation family with urge incontinence and nocturnal enuresis
Eiberg, Hans Rudolf Lytchoff, Shaumburg, H., von Gontard, A. & Rittig, S., 2001, In: J. Urol.. vol. 166, p. 2401-2403Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The genetics of enuresis: a review
von Gontard, A., Schaumburg, H., Hollmann, E., Eiberg, Hans Rudolf Lytchoff & Rittig, S., 2001, In: J. Urol.. vol. 166, p. 2438-2443Research output: Contribution to journal › Journal article › Research › peer-review
- 2000
- Published
A missense mutation in F1C1 is associated with Greenland familial cholestasis
Klomp, L. W. J., Bull, L. N., Knisely, A. S., van der Doelen, M. A. M., Juijn, J. A., Berger, R., Forget, S., Nielsen, I., Eiberg, Hans Rudolf Lytchoff & Houwen, R. H. J., 2000, In: Hepatology. Vol.32, p. 1337-1341Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Epidermolysis bullosa simplex: Korrelation mellem genotype og fænotype hos danske patienter.
Sørensen, C. B., Ladekjær-Mikkelsen, A., Andresen, B. S., Brandrup, F., Veien, N. K., Buus, S. K., Anton-Lamprecht, I., Kruse, T. A., Jensen, P. K. A., Eiberg, Hans Rudolf Lytchoff, Bolund, L. & Gregersen, N., 2000, In: Ugeskrift for læger. 162/13, p. 1873-1876Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene
Eksandh, L., Ponjavic, V., Munroe, P. B., Eiberg, Hans Rudolf Lytchoff, Uvebrant, P., Ehinger, B., Mole, S. E. & Andréasson, S., 2000, In: Ophthalmic Genetics. 71,2 pp., p. 69-77Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Linkage of cholestasis familiaris Groenlandica/Byler-like disease to chromosome 18
Eiberg, Hans Rudolf Lytchoff & Nielsen, I., 2000, In: International Journal of Circumpolar Health. 59, p. 57-62Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in caucasians
Hansen, L., Urioste, S., Petersen, H. V., Jensen, J. N., Eiberg, Hans Rudolf Lytchoff, Barbetti, F., Serup, P., Hansen, T. & Pedersen, O., 2000, In: Journal of Clinical Endocrinology and Metabolism. 85, 3, p. 1323-1326Research output: Contribution to journal › Journal article › Research › peer-review
ID: 5291
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Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
1878
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
403
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Sequencing and de novo assembly of 150 genomes from Denmark as a population reference
Research output: Contribution to journal › Letter › Research › peer-review
Published